121 related articles for article (PubMed ID: 37920903)
1. Achromatopsia: Long term visual performance and clinical characteristics.
Eshel YM; Abaev O; Yahalom C
Eur J Ophthalmol; 2023 Nov; ():11206721231212768. PubMed ID: 37920903
[TBL] [Abstract][Full Text] [Related]
2. Safety and Vision Outcomes of Subretinal Gene Therapy Targeting Cone Photoreceptors in Achromatopsia: A Nonrandomized Controlled Trial.
Fischer MD; Michalakis S; Wilhelm B; Zobor D; Muehlfriedel R; Kohl S; Weisschuh N; Ochakovski GA; Klein R; Schoen C; Sothilingam V; Garcia-Garrido M; Kuehlewein L; Kahle N; Werner A; Dauletbekov D; Paquet-Durand F; Tsang S; Martus P; Peters T; Seeliger M; Bartz-Schmidt KU; Ueffing M; Zrenner E; Biel M; Wissinger B
JAMA Ophthalmol; 2020 Jun; 138(6):643-651. PubMed ID: 32352493
[TBL] [Abstract][Full Text] [Related]
3. Genetic and Clinical Characterization of Danish Achromatopsia Patients.
Andersen MKG; Bertelsen M; Grønskov K; Kohl S; Kessel L
Genes (Basel); 2023 Mar; 14(3):. PubMed ID: 36980963
[TBL] [Abstract][Full Text] [Related]
4. Clinical heterogeneity between two Japanese siblings with congenital achromatopsia.
Hayashi T; Kozaki K; Kitahara K; Kubo A; Nishio Y; Omoto S; Nakamura Y; Watanabe A; Toda K; Ueoka Y
Vis Neurosci; 2004; 21(3):413-20. PubMed ID: 15518223
[TBL] [Abstract][Full Text] [Related]
5. Retinal morphology of patients with achromatopsia during early childhood: implications for gene therapy.
Yang P; Michaels KV; Courtney RJ; Wen Y; Greninger DA; Reznick L; Karr DJ; Wilson LB; Weleber RG; Pennesi ME
JAMA Ophthalmol; 2014 Jul; 132(7):823-31. PubMed ID: 24676353
[TBL] [Abstract][Full Text] [Related]
6. Cortical Visual Mapping following Ocular Gene Augmentation Therapy for Achromatopsia.
McKyton A; Averbukh E; Marks Ohana D; Levin N; Banin E
J Neurosci; 2021 Sep; 41(35):7363-7371. PubMed ID: 34349002
[TBL] [Abstract][Full Text] [Related]
7. Rod Monochromatism (Achromatopsia).
Tsang SH; Sharma T
Adv Exp Med Biol; 2018; 1085():119-123. PubMed ID: 30578497
[TBL] [Abstract][Full Text] [Related]
8. Identification of CNGA3 mutations in 46 families: common cause of achromatopsia and cone-rod dystrophies in Chinese patients.
Li S; Huang L; Xiao X; Jia X; Guo X; Zhang Q
JAMA Ophthalmol; 2014 Sep; 132(9):1076-83. PubMed ID: 24903488
[TBL] [Abstract][Full Text] [Related]
9. Phenotype and genotype of 15 Saudi patients with achromatopsia: A case series.
Danish E; Alhashem A; Aljehani R; Aljawi A; Aldarwish MM; Al Mutairi F; Alfadhel M; Alrifai MT; Alobaisi S
Saudi J Ophthalmol; 2023; 37(4):301-306. PubMed ID: 38155673
[TBL] [Abstract][Full Text] [Related]
10. The use of tinted contact lenses in the management of achromatopsia.
Schornack MM; Brown WL; Siemsen DW
Optometry; 2007 Jan; 78(1):17-22. PubMed ID: 17208670
[TBL] [Abstract][Full Text] [Related]
11. Compound heterozygous CNGA3 mutations (R436W, L633P) in a Japanese patient with congenital achromatopsia.
Goto-Omoto S; Hayashi T; Gekka T; Kubo A; Takeuchi T; Kitahara K
Vis Neurosci; 2006; 23(3-4):395-402. PubMed ID: 16961972
[TBL] [Abstract][Full Text] [Related]
12. Genetics and Disease Expression in the CNGA3 Form of Achromatopsia: Steps on the Path to Gene Therapy.
Zelinger L; Cideciyan AV; Kohl S; Schwartz SB; Rosenmann A; Eli D; Sumaroka A; Roman AJ; Luo X; Brown C; Rosin B; Blumenfeld A; Wissinger B; Jacobson SG; Banin E; Sharon D
Ophthalmology; 2015 May; 122(5):997-1007. PubMed ID: 25616768
[TBL] [Abstract][Full Text] [Related]
13. Six Years and Counting: Restoration of Photopic Retinal Function and Visual Behavior Following Gene Augmentation Therapy in a Sheep Model of
Ofri R; Averbukh E; Ezra-Elia R; Ross M; Honig H; Obolensky A; Rosov A; Hauswirth WW; Gootwine E; Banin E
Hum Gene Ther; 2018 Dec; 29(12):1376-1386. PubMed ID: 29926749
[TBL] [Abstract][Full Text] [Related]
14. Analysis of Suspected Achromatopsia by Multimodal Diagnostic Testing.
Kugler SA; Valmaggia C; Sturm V; Schorderet DF; Todorova MG
Klin Monbl Augenheilkd; 2023 Oct; 240(10):1158-1173. PubMed ID: 37714190
[TBL] [Abstract][Full Text] [Related]
15. [Achromatopsia : Clinical aspects, diagnostics, genes, brain and quality of life].
Käsmann-Kellner B; Hoffmann MB
Ophthalmologie; 2023 Sep; 120(9):975-986. PubMed ID: 37638972
[TBL] [Abstract][Full Text] [Related]
16. CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia.
Kohl S; Varsanyi B; Antunes GA; Baumann B; Hoyng CB; Jägle H; Rosenberg T; Kellner U; Lorenz B; Salati R; Jurklies B; Farkas A; Andreasson S; Weleber RG; Jacobson SG; Rudolph G; Castellan C; Dollfus H; Legius E; Anastasi M; Bitoun P; Lev D; Sieving PA; Munier FL; Zrenner E; Sharpe LT; Cremers FP; Wissinger B
Eur J Hum Genet; 2005 Mar; 13(3):302-8. PubMed ID: 15657609
[TBL] [Abstract][Full Text] [Related]
17. Achromatopsia: the first case report in Thailand.
Ruangvaravate N; Samsen P; Thuangtong A; Chanvarapha N
J Med Assoc Thai; 2012 Apr; 95 Suppl 4():S147-50. PubMed ID: 22696868
[TBL] [Abstract][Full Text] [Related]
18. Mutations in the CNGB3 gene encoding the beta-subunit of the cone photoreceptor cGMP-gated channel are responsible for achromatopsia (ACHM3) linked to chromosome 8q21.
Kohl S; Baumann B; Broghammer M; Jägle H; Sieving P; Kellner U; Spegal R; Anastasi M; Zrenner E; Sharpe LT; Wissinger B
Hum Mol Genet; 2000 Sep; 9(14):2107-16. PubMed ID: 10958649
[TBL] [Abstract][Full Text] [Related]
19. Comprehensive analysis of the achromatopsia genes CNGA3 and CNGB3 in progressive cone dystrophy.
Thiadens AA; Roosing S; Collin RW; van Moll-Ramirez N; van Lith-Verhoeven JJ; van Schooneveld MJ; den Hollander AI; van den Born LI; Hoyng CB; Cremers FP; Klaver CC
Ophthalmology; 2010 Apr; 117(4):825-30.e1. PubMed ID: 20079539
[TBL] [Abstract][Full Text] [Related]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]